Below is a list of some of our featured publications. Please see here for all publications of the Cores Director.
Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease. Hum Mol Genet. 2019 Jan 22; PubMed PMID: 30668749
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. Hum Mol Genet. 2018 Sep 15; 27(18):3233-3245. PubMed PMID 29905864
Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish. Neurochem Int. 2018 Jul 01; 117:23-34. PubMed PMID 28732770
N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease. Mol Genet Metab. 2018 Apr 01; 123(4):449-462. PubMed PMID 29526616
Graded effects of unregulated smooth muscle myosin on intestinal architecture, intestinal motility and vascular function in zebrafish. Dis Model Mech. 2016 May 01; 9(5):529-40. PubMed PMID 26893369